A New t(8;9) Translocation Involving the JAK2 Gene in Acute Myeloid Leukemia: A Case Report.

ABSTRACT:

Introduction

Acute myeloid leukemia (AML) is a molecularly and clinically heterogeneous disease. Nearly 50% of patients exhibit a normal karyotype, although genomic aberrations are recurrent. Translocations involving JAK2 have increasingly been identified in patients with JAK2V617F-negative myeloproliferative neoplasms, as well as in various other hematologic diseases. Here, we present a unique case of a de novo AML patient with a t(8;9)(p22;p24) translocation, resulting in HMBOX1::JAK2 fusion.

Case presentation

The patient exhibited anemia, leukocytosis, and thrombocytopenia, with bone marrow analysis revealing a significant population of CD34+CD33+ myeloid blasts. The conventional cytogenetic analysis initially showed a normal karyotype, later identify

SUBMITTER: Catricala S 

PROVIDER: S-EPMC12659015 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature